Canonical Allele Identifier: CA2578412449
Gene: SAR1B HGNC NCBI

Linked Data

gnomAD v4: 5-134606919-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.134606919C>G , CM000667.2:g.134606919C>G GRCh38
NC_000005.9:g.133942609C>G , CM000667.1:g.133942609C>G GRCh37
NC_000005.8:g.133970508C>G NCBI36
NG_017002.1:g.30925G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000402673.7:c.*31G>C MANE Select ENSP00000385432.2:n.*31G>C
ENST00000402673.6:c.*31G>C ENSP00000385432.2:n.*31G>C
ENST00000439578.5:c.*31G>C ENSP00000404997.1:n.*31G>C
ENST00000502539.5:c.*31G>C ENSP00000426335.1:n.*31G>C
ENST00000507419.5:c.*31G>C ENSP00000425339.1:n.*31G>C
ENST00000508363.5:n.2597G>C
NM_001033503.2:c.*31G>C NP_001028675.1:n.*31G>C
NM_016103.3:c.*31G>C NP_057187.1:n.*31G>C
NM_016103.4:c.*31G>C MANE Select NP_057187.1:n.*31G>C
NM_001033503.3:c.*31G>C NP_001028675.1:n.*31G>C
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